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The official name of this gene is “zinc finger and BTB domain containing 16.”
ZBTB16 is the gene's official symbol. The ZBTB16 gene is also known by other names, listed below.
This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Probable transcription factor. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Skeletal defects, genital hypoplasia, and mental retardation (SGYMR): A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. The disease is caused by mutations affecting the gene represented in this entry.
A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA.
|612447 (http://omim.org/entry/612447)||SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION|
|176797 (http://omim.org/entry/176797)||ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 16|
Cytogenetic Location: 11q23.1
Molecular Location on chromosome 11: base pairs 114,059,579 to 114,250,676
The ZBTB16 gene is located on the long (q) arm of chromosome 11 at position 23.1.
More precisely, the ZBTB16 gene is located from base pair 114,059,579 to base pair 114,250,676 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ZBTB16 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acute ; carboxyl ; cell ; cell cycle ; craniofacial ; degradation ; gene ; histone ; hypoplasia ; leukemia ; ligase ; locus ; mental retardation ; microcephaly ; myeloid ; nucleus ; progression ; protein ; rearrangement ; short stature ; stature ; transcription ; transcription factor ; translocation ; ubiquitin
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.